Incidental Mutation 'R4708:Or52p2'
ID 355414
Institutional Source Beutler Lab
Gene Symbol Or52p2
Ensembl Gene ENSMUSG00000073974
Gene Name olfactory receptor family 52 subfamily P member 2
Synonyms Olfr551, MOR29-1, GA_x6K02T2PBJ9-5307445-5306498
MMRRC Submission 042017-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R4708 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 102236948-102238026 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102237043 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 302 (D302E)
Ref Sequence ENSEMBL: ENSMUSP00000150582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098224] [ENSMUST00000213540] [ENSMUST00000216524]
AlphaFold Q8VG23
Predicted Effect probably benign
Transcript: ENSMUST00000098224
AA Change: D302E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000095827
Gene: ENSMUSG00000073974
AA Change: D302E

DomainStartEndE-ValueType
Pfam:7tm_4 33 310 2.8e-105 PFAM
Pfam:7TM_GPCR_Srsx 37 152 2e-9 PFAM
Pfam:7tm_1 43 293 1.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213540
AA Change: D302E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000216524
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 97% (68/70)
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik G A 7: 41,261,309 (GRCm39) G2D probably damaging Het
4930505A04Rik T C 11: 30,404,717 (GRCm39) Y62C probably damaging Het
Aadacl4 A C 4: 144,349,899 (GRCm39) K385N probably benign Het
Abcb4 A T 5: 8,965,125 (GRCm39) T332S possibly damaging Het
Aco2 G A 15: 81,794,117 (GRCm39) probably null Het
Aplf G T 6: 87,640,739 (GRCm39) S69Y probably damaging Het
Arhgap27 A G 11: 103,224,388 (GRCm39) probably benign Het
B4galnt1 T A 10: 127,005,684 (GRCm39) Y262N probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccdc62 T G 5: 124,068,925 (GRCm39) probably null Het
Cd109 T A 9: 78,579,871 (GRCm39) I649K probably benign Het
Cd209b T C 8: 3,974,215 (GRCm39) E99G probably damaging Het
Cep290 A G 10: 100,359,126 (GRCm39) K952R probably benign Het
Ces2a A G 8: 105,463,938 (GRCm39) H190R probably benign Het
Clec14a A G 12: 58,314,489 (GRCm39) S378P probably benign Het
Col27a1 A G 4: 63,202,150 (GRCm39) Q947R probably benign Het
Dennd3 A G 15: 73,395,344 (GRCm39) T146A probably damaging Het
Dpy19l4 T A 4: 11,277,970 (GRCm39) M486L probably benign Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Eif4enif1 T G 11: 3,170,323 (GRCm39) H125Q probably damaging Het
Fcgbp A T 7: 27,794,386 (GRCm39) M1197L probably benign Het
Fubp3 C T 2: 31,498,122 (GRCm39) T92I probably benign Het
Gm19426 T C 2: 84,573,803 (GRCm39) probably null Het
Gtf2ird2 A G 5: 134,245,140 (GRCm39) H466R probably damaging Het
Hdac5 T C 11: 102,093,019 (GRCm39) S573G probably damaging Het
Iars2 A T 1: 185,021,554 (GRCm39) M916K probably benign Het
Insr A T 8: 3,261,346 (GRCm39) probably benign Het
Itgam T C 7: 127,700,709 (GRCm39) V493A probably damaging Het
Ivl T A 3: 92,479,057 (GRCm39) K336I probably damaging Het
Kcng2 A G 18: 80,366,067 (GRCm39) I95T probably damaging Het
Lap3 A G 5: 45,668,480 (GRCm39) R431G probably damaging Het
Lrrc66 T C 5: 73,787,005 (GRCm39) H115R probably benign Het
Morc3 T C 16: 93,670,126 (GRCm39) V767A probably benign Het
Mttp A G 3: 137,839,859 (GRCm39) probably benign Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Nat9 G A 11: 115,074,269 (GRCm39) T133M probably damaging Het
Nectin4 T C 1: 171,212,714 (GRCm39) I349T probably benign Het
Nlrp4a A G 7: 26,163,533 (GRCm39) E900G probably benign Het
Nlrp9c A T 7: 26,084,265 (GRCm39) M438K probably benign Het
Or2y14 T A 11: 49,405,216 (GRCm39) Y250* probably null Het
Or5b21 A T 19: 12,839,261 (GRCm39) I41F probably benign Het
Parp6 T C 9: 59,549,052 (GRCm39) I507T probably damaging Het
Pde6c G A 19: 38,169,341 (GRCm39) E804K possibly damaging Het
Plscr2 A G 9: 92,173,067 (GRCm39) Y203C probably damaging Het
Ptprs A G 17: 56,735,067 (GRCm39) W216R probably damaging Het
Rhof T A 5: 123,258,454 (GRCm39) T126S probably benign Het
Riox2 A G 16: 59,296,045 (GRCm39) I49V probably benign Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Rusf1 A G 7: 127,873,852 (GRCm39) V345A probably benign Het
Shld2 A G 14: 33,989,790 (GRCm39) V372A probably benign Het
Spata31e2 A T 1: 26,723,521 (GRCm39) V553D possibly damaging Het
Tmc6 A T 11: 117,659,774 (GRCm39) C750S probably benign Het
Tmem231 C A 8: 112,660,418 (GRCm39) probably benign Het
Tmem94 T A 11: 115,677,121 (GRCm39) I131N possibly damaging Het
Tmx3 T C 18: 90,539,163 (GRCm39) probably null Het
Tnfrsf21 C T 17: 43,349,123 (GRCm39) T245I possibly damaging Het
Ttbk2 C A 2: 120,570,342 (GRCm39) R1201S probably damaging Het
Vmn2r102 A T 17: 19,914,576 (GRCm39) M714L probably benign Het
Vmn2r109 A G 17: 20,761,605 (GRCm39) L584S probably damaging Het
Vmn2r53 T A 7: 12,335,129 (GRCm39) H177L probably benign Het
Vnn1 T A 10: 23,773,250 (GRCm39) D92E probably benign Het
Zan T C 5: 137,444,974 (GRCm39) I1762V unknown Het
Zbtb20 G T 16: 43,431,039 (GRCm39) A517S probably damaging Het
Zfhx4 A G 3: 5,310,563 (GRCm39) probably null Het
Zfp560 T C 9: 20,263,214 (GRCm39) E54G possibly damaging Het
Zfp719 C T 7: 43,239,656 (GRCm39) H415Y probably damaging Het
Zmynd11 A C 13: 9,745,789 (GRCm39) V188G probably damaging Het
Other mutations in Or52p2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Or52p2 APN 7 102,237,436 (GRCm39) nonsense probably null
IGL03034:Or52p2 APN 7 102,237,147 (GRCm39) missense probably benign 0.42
IGL03076:Or52p2 APN 7 102,237,679 (GRCm39) missense probably benign
R0564:Or52p2 UTSW 7 102,237,738 (GRCm39) missense probably benign
R0890:Or52p2 UTSW 7 102,237,408 (GRCm39) nonsense probably null
R0909:Or52p2 UTSW 7 102,237,654 (GRCm39) missense probably damaging 1.00
R1053:Or52p2 UTSW 7 102,237,166 (GRCm39) nonsense probably null
R4932:Or52p2 UTSW 7 102,237,623 (GRCm39) missense probably damaging 0.98
R6248:Or52p2 UTSW 7 102,237,237 (GRCm39) missense probably benign 0.00
R6343:Or52p2 UTSW 7 102,237,753 (GRCm39) missense probably damaging 0.98
R6389:Or52p2 UTSW 7 102,237,679 (GRCm39) missense probably benign
R6455:Or52p2 UTSW 7 102,237,878 (GRCm39) missense probably benign 0.00
R7305:Or52p2 UTSW 7 102,237,162 (GRCm39) missense possibly damaging 0.94
R7638:Or52p2 UTSW 7 102,237,125 (GRCm39) missense probably damaging 0.98
R7743:Or52p2 UTSW 7 102,237,638 (GRCm39) missense probably benign 0.32
R7792:Or52p2 UTSW 7 102,238,090 (GRCm39) start gained probably benign
R8855:Or52p2 UTSW 7 102,237,945 (GRCm39) missense probably benign
Z1177:Or52p2 UTSW 7 102,237,929 (GRCm39) missense probably benign 0.34
Predicted Primers PCR Primer
(F):5'- TGATACCTCCTCTGACAAGTGATAG -3'
(R):5'- ACCTTTGGCACTTGTGGCTC -3'

Sequencing Primer
(F):5'- TCCTCTGACAAGTGATAGAACTC -3'
(R):5'- GGCTCCCACCTAGGTGTCATC -3'
Posted On 2015-10-21